TY - JOUR T1 - Rare <em>TP53</em> genetic variant associated with glioma risk and outcome JF - Journal of Medical Genetics JO - J Med Genet SP - 420 LP - 421 DO - 10.1136/jmedgenet-2012-100941 VL - 49 IS - 7 AU - Kathleen M Egan AU - L Burton Nabors AU - Jeffrey J Olson AU - Alvaro N Monteiro AU - James E Browning AU - Melissa H Madden AU - Reid C Thompson Y1 - 2012/07/01 UR - http://jmg.bmj.com/content/49/7/420.abstract N2 - Validation of a recent finding linking a rare variant in TP53 to the risk of glioma, the most common primary brain tumour, is reported here. This study genotyped the single nucleotide polymorphism (SNP) rs78378222 in 566 glioma cases and 603 controls. The variant ā€˜Cā€™ allele (with an allelic frequency of 1.1% in controls) was associated with a 3.5-fold excess in glioma risk (odds ratio 3.54; p=0.0001). Variant carriers had significantly improved survival (hazard ratio 0.52; p=0.009) when compared to non-carriers. The rs78378222 SNP is the first confirmed rare susceptibility variant in glioma. Results may shed light on the aetiology and progression of these tumours. ER -